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Description for Protein GBA

glucosidase, beta, acid
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.45
    KEGG - Orthology:
    K01201
    KEGG - Pathway(s):
    hsa00511; hsa00600; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Acid beta-glucosidase; GBAP; GBA1; GLUC; Glucosylceramidase; D-glucosyl-N-acylsphingosine glucohydrolase; Beta-glucocerebrosidase; Alglucerase; EC 3.2.1.45; Lysosomal glucocerebrosidase; Imiglucerase
    Approved Symbol:
    GBA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • (2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL(db);
  • 2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose(db);
  • Myo-Inositol(db)

    Associated Genetic Diseases:

  • Gaucher disease, periNatal lethal(Pd);
  • Gaucher disease, type I(Pd);
  • Gaucher disease, type II(Pd);
  • Gaucher disease, type III(Pd);
  • Gaucher disease, type IIIC(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06973 Entrez Gene ID: 2629 OMIM ID: 606463 Swissprot Accession: P04062;